ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys)

dbSNP: rs2077900685
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002036027 SCV002293678 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2022-07-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1506580). This variant has not been reported in the literature in individuals affected with MUSK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 625 of the MUSK protein (p.Arg625Lys).
GenomeConnect - Invitae Patient Insights Network RCV002036027 SCV004228836 not provided Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-14-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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